UniProtKB/Swiss-Prot P51787: Variant p.Lys393Asn

Potassium voltage-gated channel subfamily KQT member 1
Gene: KCNQ1
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Variant information Variant position:

393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Lysine (K) to Asparagine (N) at position 393 (K393N, p.Lys393Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs12720457 [ dbSNP | Ensembl ]

Sequence information Variant position:

393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

676 The length of the canonical sequence.
Location on the sequence:

SLIQTAWRCYAAENPDSSTW K IYIRKAPRSHTLLSPSPKPK The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPK

Mouse                         SLIQTAWRCYAAENPDSATWKIYVRKPARSHTLLSPSPKPK

Rat                           SLIQTAWRCYAAENPDSSTWKIYVRKPARSHTLLSPSPKPK

Pig                           SLIQTAWRCYAAENPDSSTWKIYVRKPSRSQALLSPSPKPK

Rabbit                        SLIQTAWRCYAAENPDSATWKIYIRKPTRGHALLSPSPKPK

Xenopus laevis                SLIQTAWRCYAAENPDSATWKIYIRKQSRNHHLMSPSPKPK

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 676	Potassium voltage-gated channel subfamily KQT member 1
Topological domain	349 – 676	Cytoplasmic
Modified residue	407 – 407	Phosphoserine
Modified residue	409 – 409	Phosphoserine
Mutagenesis	375 – 375	I -> D. Reduced protein expression, probably due to misfolding and proteasomal degradation. No detectable electrophysiological activity. Reduced electrophysiological activity in the presence of KCNE1.
Helix	390 – 394

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.